Codon 905 missense mutations in TSC2 are relatively common. The TSC2 R905Q mutation is associated with unusually mild disease, consistent with functional studies. Combined with previous reports, it is apparent that certain TSC2 missense mutations are associated with a mild form of tuberous sclerosis, which in many patients does not meet standard diagnostic criteria. These findings have implications for the large number of patients with limited clinical features of TSC and for genetic counseling in these families.

Langerhans cells of the epidermis are "special" macrophages, as indicated by their expression of Fc and C3 receptors and Ia antigen. Functionally, they can replace macrophages in presentation of antigens to T cells and in the MLR. Ultrastructural and immunologic studies were carried out on epidermal samples of mycosis fungoides. As in contact allergy, apposition of lymphocytes to Langerhans cells was noted. Destruction of Langerhans cells appeared to act as the focus for the development of Pautrier microabscesses. This destruction was accompanied by ingress of histocytic cells, probably related to the stem cell population for Langerhans cells. The target cell role of Langerhans cells appears to be similar in contact allergy and mycosis fungoides.

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Sera can produce nuclear or perinuclear immunofluorescence staining in neutrophils which may be caused by antibodies with diVering antigenic specificities. These include perinuclear antineutrophil cytoplasmic antibodies (P-ANCA), granulocyte specific antinuclear antibody (GS-ANA), and antinuclear antibody (ANA). There is controversy over the value of formalin fixation of neutrophils in diVerentiating antibodies giving selective or preferential reaction with the nuclear or perinuclear area of neutrophils. In a comparative study of 77 sera, formalin fixation caused inconsistency, nonspecific eVects, and false positivity owing to enhanced fluorescence. If formalin fixed neutrophils are used in the routine diagnostic laboratory, this will add confusion to the interpretation of the ANCA assay. (J Clin Pathol 1999;52:475-477)

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